Mutation Details for c.481T>A
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cDNA Name
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c.481T>A
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Protein Name
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p.Tyr161Asn
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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Y161N
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Other Details
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This putative mutation was detected by DGGE and identified by DNA fluorescent sequencing in an young patient from Southern France suffering from isolated nasal polyposis. He carries the G85E mutation on the other chromosome.
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Contributors
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Claustres M,
des Georges M,
Guittard C
2000-11-16
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Institute
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Institut de Biologie Montpellier
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Submitted Phenotype Details
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The patient is 15 yrs (male), PS, no lung disease, sweat chloride of 35 and 38 mEq/l. He has nasal polyposis.
G85E on the other allele.
(pers. corr. Claustres)
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Reference
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Claustres et al. 2000
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